Results 201 to 210 of about 2,878,283 (349)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Evaluation of pediatric patients with drug allergy confirmed by in vivo diagnostic tests. [PDF]

Pediatr Allergy Immunol
İpek Demir K, Yılmaz D, Güvenir FA, Giniş T, İslamoğlu C, Şengül Emeksiz Z, Karaatmaca B, Toyran M, Civelek E, Misirlioğlu ED.   +9 more
europepmc   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Complications after medullary thyroid carcinoma surgery: multicentre study of the SQRTPA and EUROCRINE® databases

BJS (British Journal of Surgery), EarlyView., 2020
This study investigated postoperative complications after surgery for medullary thyroid carcinoma (MTC) in Europe. Hypoparathyroidism, recurrent laryngeal nerve palsy and bleeding requiring reoperation occurred in 170 (26·2 per cent), 62 (13·7 per cent) and 17 (2·6 per cent) patients respectively.
D.‐J. van Beek, M. Almquist, A. O. Bergenfelz, T. J. Musholt, E. Nordenström, on behalf of the EUROCRINE® Council, M. Almquist, M. Barczynski, L. Brunaud, T. Clerici, M. H. Hansen, M. Iacobone, Ö. Makay, F. F. Palazzo, N. Muñoz‐Pérez, M. Raffaelli, P. Riss, S. van Slycke, M. R. Vriens   +18 more
wiley   +1 more source

Does Exsanguination Enhance Skin Microcirculation in Remote Ischemic Conditioning Using a Tourniquet? A Randomized Controlled Trial on 50 Healthy Subjects. [PDF]

Arch Plast Surg
Rist C, Rothenberger J, Daigeler A, Wenger A.   +3 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Synephrine potentiates lidocaine-induced cutaneous analgesia via α-adrenergic receptors in male rats. [PDF]

Physiol Rep
Chou AK, Chiu CC, Liu KS, Chen YW, Hung CH, Wang JJ.   +5 more
europepmc   +1 more source

Dupilumab Beyond the Airway: Decreased Morbidity in a Real‐World Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Post hoc analyses of clinical trials have characterized dupilumab's adverse effects, yet the real‐world impact in chronic rhinosinusitis with nasal polyps (CRSwNP) and asthma is not well described. This study aims to characterize the risks of lymphoma, cardiovascular events, eosinophilia, joint pain, inflammatory arthritis, and ...
Emma J. Anisman, Spencer Short, Emma Tam, Benjamin F. Bitner, Abdulghafoor Alani, Marc Rosen, Mindy Rabinowitz, Damaris Pena Evertz, Elina Toskala, Gurston G. Nyquist   +9 more
wiley   +1 more source

Cutaneous Tuberculous Sinus Tract: A Case Report. [PDF]

Clin Cosmet Investig Dermatol
Gu J, Chen S, Ye M, Tian Y, Chen X, Cheng H, Li T.   +6 more
europepmc   +1 more source

Severe Cutaneous and Neurologic Toxicity in Melanoma Patients during Vemurafenib Administration Following Anti-PD-1 Therapy

Cancer immunology research, 2013
Douglas B. Johnson, Erika K Wallender, D. N. Cohen, Sunaina S. Likhari, J. Zwerner, J. Powers, Lisa Shinn, M. Kelley, R. Joseph, J. Sosman   +9 more
semanticscholar   +1 more source